Associated Papers
Successful reduced-intensity cord blood transplantation in infants with familial hemophagocytic lymphohistiocytosis type 2.
Yasue S et al.
International Journal of Hematology, 2026
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Wegehaupt O et al.
Blood, 2025
40090000 (PubMed )
Supplement: BLOOD_BLD-2024-027954-mmc2.xlsx › Suppl._table_1
Familial hemophagocytic lymphohistiocytosis in a neonate: Case report and literature review.
Yang Y et al.
Medicine, 2021
Familial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate: A case report and review of the literature.
Bi SH et al.
World Journal of Clinical Cases, 2021
RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.
Shi Y et al.
Pharmacogenomics and Personalized Medicine, 2021
Three Consecutive Cases of Familial Hemophagocytic Lymphohistiocytosis, Including a Case Due to Maternal Uniparental Disomy.
Sato H et al.
Journal of Pediatric Hematology/oncology, 2020
Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.
Benezech S et al.
Clinical Case Reports, 2017
Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.
Nagai K et al.
Plos One, 2010
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
Trizzino A et al.
Journal of Medical Genetics, 2008
[Genetic defects and pathogenesis of hemophagocytic syndrome].
Ishii E
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2006
A novel perforin gene mutation in a Japanese family with hemophagocytic lymphohistiocytosis.
Ueda I et al.
International Journal of Hematology, 2006
Review of hemophagocytic lymphohistiocytosis (HLH) in children with focus on Japanese experiences.
Ishii E et al.
Critical Reviews in Oncology/hematology, 2005
Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan.
Suga N et al.
British Journal of Haematology, 2002
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